title: A case with bladder exstrophy and unbalanced X chromosome rearrangement.
abstract: BACKGROUND
  Bladder exstrophy is a rare congenital malformation of the bladder and is believed to be a complex disorder with genetic and environmental background. We describe a young adult female with an isolated bladder exstrophy and with an X chromosome aberration. Patients and
  
  
  METHODS
  Karyotyping identified an X chromosome rearrangement that was further characterized with array comparative genomic hybridization (CGH) and confirmed by multiplex ligation-dependent probe amplification and fluorescence in situ hybridization (FISH) analysis.
  
  
  RESULTS
  The identified X chromosome rearrangement in our index patient consists of a gain of chromosomal material in region Xq26.3- > qter and loss in region Xp22.12- > pter. This aberration was also carried by her mother and sister, none with bladder exstrophy. All three have a disproportionate short stature, as expected due to the deletion of one of the copies of the SHOX gene on Xp22.3. X-inactivation studies revealed a complete skewed inactivation pattern in carriers. Crossover events in the maternal germline furthermore resulted in different genetic material on the rearranged X chromosome between the index patient and her sister.
  
  
  CONCLUSIONS
  Our findings suggest an X-linked genetic risk factor for bladder exstrophy.
authors.affiliation: Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
authors.forename: Cilla
authors.initials: C
authors.lastname: Soderhall
authors.affiliation: Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Johanna
authors.initials: J
authors.lastname: Lundin
authors.affiliation: Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Kristina
authors.initials: K
authors.lastname: Lagerstedt-Robinson
authors.affiliation: Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Giedre
authors.initials: G
authors.lastname: Grigelioniene
authors.affiliation: Section of Urology, Uppsala Academic Children Hospital, Uppsala, Sweden.
authors.forename: Goran
authors.initials: G
authors.lastname: Lackgren
authors.affiliation: Department of Pediatric Surgery, University Hospital, Lund, Sweden.
authors.forename: Christina Clementson
authors.initials: CC
authors.lastname: Kockum
authors.affiliation: Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Agneta
authors.initials: A
authors.lastname: Nordenskjold
mesh_terms: D001746:Bladder Exstrophy / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D015321:Gene Rearrangement; D008040:Genetic Linkage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D010375:Pedigree